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Genetic counseling: Dysmorphic Features - Developmental Delay
Dysmorphic Features - Developmental Delay Contracting *Introduce myself and counselor **Explain role of counselor is supervisory *Discuss the reason for referral **Do you know why you are here today? *Elicit prior knowledge *Assess parental concerns **Any further plans for children? **I understand you had a previous child that was stillborn? *Set goals for the session/overview what will happen **Physical exam by Dr. **Address parental concerns **Discuss any further testing **Arrange for follow up Intake and Family History Update *Pedigree *Interim History **Illnesses **Hospitalizations **Surgeries **Current medications *Review of systems **Diet/feeding **What he eats, how much, how often **Skin **Rashes, birthmarks, dry skin **CV **Heart murmur, special heart tests (EKG) **Endo **Hormone problems, diabetes, thyroid disease, weight gain or loss **GU **Kidney anomalies, renal ultrasound **MS **Muscle weakness, scoliosis, bone fractures **ENT **Sinusitis, ear infection, hearing loss **Psych **Temperament, sleeping patterns **GI **Diarrhea, constipation **Allergy to food, medicine, etc. **Eyes **Visual problems, cataracts **Neuro **Seizures, brain abnormality **Resp **Colds, infection, wheezing, pneumonia **Heme **Bleeding disorders *Recent tests and procedures *Developmental Assessment **Currently 1 year, 2 weeks old **Skills for a 1 year old **Pulls self to standing, may step with support **Picks things up with thumb and one finger **Stacks two blocks, gives toy on request **Gives affection **Follows simple directions accompanied by gestures **May say 2 or 3 words **Skills for a 9 month old **Sits alone, changes position without falling **Plays with 2 objects at the same time **Says mama & baba **Skills for 6 month old **Sits with minimal support, rolls from back to stomach **Transfers object from hand to hand and hand to mouth **Babbles, more than 2 sounds **Skills for 15 month old **May walk without support **Stacks 2 blocks **Vocalized up and down like conversation; may say 4 or 5 words **Some self-feeding *Any early intervention programs? *Psychosocial assessment *Physical exam **Macro/microcephaly? **Height and weight? Differential Diagnosis *Input criteria using London Dysmorphology Database: **Hypertelorism; posteriorly rotated ears; epicanthic folds; developmental delay *Output: **Braegger: ischiadic hypoplasia; renal dysfunction; immunodeficiency **Autosomal recessive **Conductive hearing loss, intrauterine growth retardation, microcephaly, syndactyly **Cardio-Facio-Cutaneous (CFC) syndrome **Common features with Noonan syndrome **Pulmonary stenosis is common **Enlarged liver and spleen, mild to moderate mental retardation in 80%, macrocephaly, sparse, curly and/or slow-growing hair, lack of eyebrows and eyelashes, abnormal skin lesions varying from severe atopic dermatitis to hyperkeratosis/ichthyosis-like lesions **Hypotonia, strabismus, brain anomalies including hydrocephalus, cortical atrophy, hypoplasia of frontal lobes and/or brain stem atrophy **Farag: hypertelorism; hypospadias; tetralogy of Fallot **Autosomal recessive **Mental retardation, also other cardiac defects including PFO, PDA, and absent pulmonary valve **Fetal Alcohol Syndrome **Low birth-weight **Hypotonia, microcephaly, FTT, smooth philtrum with a thin upper lip **Cardiac lesions in 1/3 of cases: VSD is most common **Hurst: congenital heart disease; choanal stenosis; short stature **Autosomal recessive **ASD and VSD; microcephaly, small nose, long philtrum, thin upper lip **Morillo-Cucci: short stature, mental retardation; unusual face **Hypertelorism, ptosis, myopia, strabismus, antimongoloid palpebral fissures **Hyperextensible joints; bilateral 5th finger clinodactyly **Multiple circumferential skin folds (Michelin baby) **Autosomal dominant; heterogeneous condition. **Marked annular skin creases on the limbs with underlying nevus lipomatosus **Hemihypertorphy, CP can be seen, micrognathia, pectus excavatum, scoliosis, hypoplastic scrotum, and retractile testes. **Multiple pterygium syndrome **Autosomal dominant **Ptosis, antimongoloid eye slant, scoliosis, camptodactyly, vertebral anomalies **Small stature, cryptorchidism, normal intelligence **Noonan syndrome (Turner-like syndrome) **1/1000 and 1/2300 live births **Short stature, short neck with webbing, cardiac anomalies, characteristic chest deformity (pectus excavatum), widespaced nipples, characteristic facies, 35% mental retardation **Cryptorchidism, pulmonic stenosis, bleeding disorders **Polyhydramnios in 33% of cases and feeding difficulties in 75% **Noonan-like/multiple giant cell lesion syndrome **Cherubism and polyarticular pigmented villonodular synovitis **Opitz-BBB syndrome **X-linked and AD (indistinguishable clinically) **Hypertelorism, hypospadias, CL/CP, imperforate anus (although rare), hypotonia **Congenital heart defect, cryptorchidism, bifid scrotum, mental retardation **Hernias, micrognathia, broad flat nasal bridge **Pascual-Castroviejo: cerebro-facio-thoracic dysplasia **Mental retardation, narrow forehead, bushy eyebrows, triangular-shaped mouth with downturned corners, short neck with low posterior hairline, brachycephaly, maxillary hypoplasia, and multiple skeletal anomalies. **Pashayan: MR; truncal obesity, webbed neck, blepharophimosis **Simple philtrum, thin upper lip, flat, broad nasal bridge, short stubby nasal tip, hypertelorism, developmental delay **Glaucoma requiring enucleation. **Pterygium colli-mental retardation-digital anomalies **Pterygium colli, ptosis, upslanting palpebral fissures, hypertelorism, broad nasal base and bridge, epicanthus inversus, syndactyly of toes **Ritscher-Schinzel: Dandy-Walker malformation of the brain; atrioventricular septal defect **Hypertelorism, downslanting palpebral fissures, low-set ears, postnatal growth retardation, cardiac defects, DD **Rubinstein-Taybi syndrome **Microcephaly, antimongoloid eye slant, hypertelorism, long eyelashes, milt ptosis, prominent and/or beaked nose with or without nasal septum extending below alae nasi (100%), thumbs are broad, occasionally bifid, cardiac defects in 25%, broad great toes in 100%, ear infections are common **Sleep problems possibly due to sleep apnea, feeding difficulties are common Summarize Major Points Elicit Final Questions Arrange for Follow up Resources *The family Village :www.familyvillage.wisc.edu References *London Dysmorphology Database *Smith's recognizable patterns of human malformation (1997) 5th Edition. *Early Intervention Services: "A Guide to Your Child's Development" (1999) Notes The information in this outline was last updated in 2002. This material has been imported fom the wikibook "Genetic counseling"[ http://en.wikibooks.org/wiki/Genetic_counseling] under the GNU Free Documentation License.